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    ZNF676 zinc finger protein 676 [ Homo sapiens (human) ]

    Gene ID: 163223, updated on 23-Nov-2023

    Summary

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    Official Symbol
    ZNF676provided by HGNC
    Official Full Name
    zinc finger protein 676provided by HGNC
    Primary source
    HGNC:HGNC:20429
    See related
    Ensembl:ENSG00000196109 AllianceGenome:HGNC:20429
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 3.0), thyroid (RPKM 2.0) and 14 other tissues See more
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    Genomic context

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    Location:
    19p12
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (22179089..22260304, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (22317323..22398923, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (22361891..22379753, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:22322832-22323332 Neighboring gene metadherin pseudogene 5 Neighboring gene vomeronasal 1 receptor 85 pseudogene Neighboring gene BCL2 interacting protein 3 pseudogene 30 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:22399096-22399311 Neighboring gene zinc finger protein 729 Neighboring gene BCL2 interacting protein 3 pseudogene 31 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:22504465-22505169 Neighboring gene uncharacterized LOC105372330

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Transcriptome-wide association study revealed two novel genes associated with nonobstructive azoospermia in a Chinese population. Jiang T, et al. Fertil Steril, 2017 Dec. PMID 29202958
    2. Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. Mangino M, et al. Hum Mol Genet, 2012 Dec 15. PMID 23001564, Free PMC Article
    3. Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology. Levy D, et al. Proc Natl Acad Sci U S A, 2010 May 18. PMID 20421499, Free PMC Article
    4. Identification of DeltaNp63alpha protein interactions by mass spectrometry. Amoresano A, et al. J Proteome Res, 2010 Apr 5. PMID 20085233
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcriptome wide association study results identified two novel genes as statistically significantly associated with nonobstructive azoospermia susceptibility: PILRA and ZNF676.
      Title: Transcriptome-wide association study revealed two novel genes associated with nonobstructive azoospermia in a Chinese population.
    2. Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
      Title: Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.
    EBI GWAS Catalog
    Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 676

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001001411.3 → NP_001001411.2  zinc finger protein 676

      See identical proteins and their annotated locations for NP_001001411.2

      Status: VALIDATED

      Source sequence(s)
      AC073539, AK097798, BX281304
      Consensus CDS
      CCDS42539.1
      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3
      Related
      ENSP00000380310.1, ENST00000397121.3
      Conserved Domains (5) summary
      smart00349
      Location:1 → 32
      KRAB; krueppel associated box
      COG5048
      Location:195 → 580
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:507 → 527
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:114 → 135
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:547 → 572
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      22179089..22260304 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438360.1 → XP_047294316.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    2. XM_047438355.1 → XP_047294311.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    3. XM_047438358.1 → XP_047294314.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    4. XM_047438357.1 → XP_047294313.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    5. XM_047438354.1 → XP_047294310.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    6. XM_047438353.1 → XP_047294309.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    7. XM_047438359.1 → XP_047294315.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    8. XM_047438356.1 → XP_047294312.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    9. XM_047438361.1 → XP_047294317.1  zinc finger protein 676 isoform X3

    10. XM_047438352.1 → XP_047294308.1  zinc finger protein 676 isoform X1

      UniProtKB/TrEMBL
      A0A3B3ITU2
      Related
      ENSP00000497897.1, ENST00000650058.1

    11. XM_047438362.1 → XP_047294318.1  zinc finger protein 676 isoform X3

    RNA

    1. XR_007066663.1 RNA Sequence

    2. XR_007066662.1 RNA Sequence

    3. XR_007066660.1 RNA Sequence

    4. XR_007066659.1 RNA Sequence

    5. XR_007066658.1 RNA Sequence

    6. XR_007066657.1 RNA Sequence

    7. XR_007066656.1 RNA Sequence

    8. XR_007066654.1 RNA Sequence

    9. XR_007066655.1 RNA Sequence

    10. XR_007066661.1 RNA Sequence

    11. XR_002958433.2 RNA Sequence

    12. XR_001754085.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315965.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      40665..129785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329601.1 → XP_054185576.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    2. XM_054329602.1 → XP_054185577.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    3. XM_054329604.1 → XP_054185579.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    4. XM_054329605.1 → XP_054185580.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    5. XM_054329603.1 → XP_054185578.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    6. XM_054329607.1 → XP_054185582.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    7. XM_054329606.1 → XP_054185581.1  zinc finger protein 676 isoform X2

      UniProtKB/Swiss-Prot
      A8MVX5, Q8N7Q3

    8. XM_054329600.1 → XP_054185575.1  zinc finger protein 676 isoform X1

      UniProtKB/TrEMBL
      A0A3B3ITU2

    9. XM_054329608.1 → XP_054185583.1  zinc finger protein 676 isoform X3

    10. XM_054329610.1 → XP_054185585.1  zinc finger protein 676 isoform X4

    11. XM_054329609.1 → XP_054185584.1  zinc finger protein 676 isoform X3

    RNA

    1. XR_001756497.2 RNA Sequence

    2. XR_001756496.3 RNA Sequence

    3. XR_007068730.1 RNA Sequence

    4. XR_001756494.2 RNA Sequence

    5. XR_007068727.1 RNA Sequence

    6. XR_007068728.1 RNA Sequence

    7. XR_007068729.1 RNA Sequence

    8. XR_001756498.2 RNA Sequence

    9. XR_001756499.2 RNA Sequence

    10. XR_001756503.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      22317323..22398923 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320102.1 → XP_054176077.1  zinc finger protein 676 isoform X2

    2. XM_054320096.1 → XP_054176071.1  zinc finger protein 676 isoform X2

    3. XM_054320099.1 → XP_054176074.1  zinc finger protein 676 isoform X2

    4. XM_054320098.1 → XP_054176073.1  zinc finger protein 676 isoform X2

    5. XM_054320095.1 → XP_054176070.1  zinc finger protein 676 isoform X2

    6. XM_054320094.1 → XP_054176069.1  zinc finger protein 676 isoform X2

    7. XM_054320101.1 → XP_054176076.1  zinc finger protein 676 isoform X2

    8. XM_054320100.1 → XP_054176075.1  zinc finger protein 676 isoform X2

    9. XM_054320097.1 → XP_054176072.1  zinc finger protein 676 isoform X2

    10. XM_054320105.1 → XP_054176080.1  zinc finger protein 676 isoform X5

    11. XM_054320103.1 → XP_054176078.1  zinc finger protein 676 isoform X3

    12. XM_054320093.1 → XP_054176068.1  zinc finger protein 676 isoform X1

    13. XM_054320104.1 → XP_054176079.1  zinc finger protein 676 isoform X3

    RNA

    1. XR_007089028.1 RNA Sequence

    2. XR_007089027.1 RNA Sequence

    3. XR_007089025.1 RNA Sequence

    4. XR_007089024.1 RNA Sequence

    5. XR_007089023.1 RNA Sequence

    6. XR_007089022.1 RNA Sequence

    7. XR_007089021.1 RNA Sequence

    8. XR_007089019.1 RNA Sequence

    9. XR_007089020.1 RNA Sequence

    10. XR_007089026.1 RNA Sequence

    11. XR_007089030.1 RNA Sequence

    12. XR_007089029.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N7Q3.2 GenPept UniProtKB/Swiss-Prot:Q8N7Q3

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